|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
2
|
|
pubmed:dateCreated |
2005-1-20
|
|
pubmed:abstractText |
Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the dorsal aspects of the hands and feet. To date, only three articles testified that DSH is caused by the mutations of DSRAD gene (also called ADAR1) encoding for RNA-specific adenosine deaminase.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Feb
|
|
pubmed:issn |
0923-1811
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
37
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
95-9
|
|
pubmed:dateRevised |
2010-11-18
|
|
pubmed:meshHeading |
pubmed-meshheading:15659327-Adenosine Deaminase,
pubmed-meshheading:15659327-Arginine,
pubmed-meshheading:15659327-Asian Continental Ancestry Group,
pubmed-meshheading:15659327-Base Sequence,
pubmed-meshheading:15659327-China,
pubmed-meshheading:15659327-DNA Mutational Analysis,
pubmed-meshheading:15659327-Exons,
pubmed-meshheading:15659327-Family Health,
pubmed-meshheading:15659327-Female,
pubmed-meshheading:15659327-Genetic Linkage,
pubmed-meshheading:15659327-Genotype,
pubmed-meshheading:15659327-Humans,
pubmed-meshheading:15659327-Male,
pubmed-meshheading:15659327-Molecular Sequence Data,
pubmed-meshheading:15659327-Mutation,
pubmed-meshheading:15659327-Mutation, Missense,
pubmed-meshheading:15659327-Pedigree,
pubmed-meshheading:15659327-Phenotype,
pubmed-meshheading:15659327-Pigmentation,
pubmed-meshheading:15659327-Pigmentation Disorders,
pubmed-meshheading:15659327-Polymerase Chain Reaction,
pubmed-meshheading:15659327-RNA
|
|
pubmed:year |
2005
|
|
pubmed:articleTitle |
A new arginine substitution mutation of DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria.
|
|
pubmed:affiliation |
Department of Dermatology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, China.
|
|
pubmed:publicationType |
Journal Article
|
